Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-55395599-GT-G c.*410delA splice_region ANKRD55 13 3636 0.00357536 1818 1 0.0040419
5-55395599-G-GT c.*410dupA splice_region ANKRD55 8 3614 0.00221361 1807 0 0.00534233
5-55396030-G-A p.Pro609Ser missense ANKRD55 1 83314 1.20028E-5 41657 0 NA
5-55396031-GT-G p.Asn608fs frameshift ANKRD55 4 83308 4.80146E-5 41654 0 3.18956E-5
5-55396046-A-T p.Ser603Arg missense ANKRD55 2 83288 2.40131E-5 41644 0 NA
5-55396046-A-G p.Ser603Ser synonymous ANKRD55 1 83288 1.20065E-5 41644 0 NA
5-55396048-T-C p.Ser603Gly missense ANKRD55 2 83290 2.40125E-5 41645 0 NA
5-55396057-C-T p.Ala600Thr missense ANKRD55 1 83226 1.20155E-5 41613 0 3.1835E-5
5-55396064-G-A p.Ser597Ser synonymous ANKRD55 1 83180 1.20221E-5 41590 0 NA
5-55396070-T-C p.Arg595Arg synonymous ANKRD55 1 83150 1.20265E-5 41575 0 4.00128E-6
5-55396074-C-T p.Arg594Gln missense ANKRD55 243 83100 0.00292419 41550 3 0.00595238
5-55396075-G-A p.Arg594* stop_gained ANKRD55 27 83068 3.25035E-4 41534 0 2.00183E-4
5-55396110-C-T p.Arg582Gln missense ANKRD55 1 82312 1.21489E-5 41156 0 4.81522E-5
5-55396114-G-A p.Leu581Leu synonymous ANKRD55 1 82214 1.21634E-5 41107 0 NA
5-55396123-C-A p.Gly578* stop_gained ANKRD55 3 81886 3.66363E-5 40943 0 6.36699E-5
5-55396131-A-AATTTTTGATCTGGTAGGGGAGCTAGGTTGTTCCGAGTGAAAGGAAGATCC c.1724-1_1724insGGATCTTCCTTTCACTCGGAACAACCTAGCTCCCCTACCAGATCAAAAAT splice_acceptor ANKRD55 1 81444 1.22784E-5 40722 0 NA
5-55398320-C-T c.1723+1G>A splice_donor ANKRD55 1 82914 1.20607E-5 41457 0 4.0042E-6
5-55398322-T-A p.Lys574Asn missense+splice_region ANKRD55 2 82966 2.41063E-5 41483 0 8.24906E-6
5-55398333-G-A p.Pro571Ser missense ANKRD55 3 83038 3.6128E-5 41519 0 NA
5-55398333-G-T p.Pro571Thr missense ANKRD55 1 83038 1.20427E-5 41519 0 NA
5-55398345-G-C p.Leu567Val missense ANKRD55 1 83102 1.20334E-5 41551 0 1.59155E-5
5-55398346-G-A p.Asn566Asn synonymous ANKRD55 1 83096 1.20343E-5 41548 0 NA
5-55398349-G-C p.Asn565Lys missense ANKRD55 1 83118 1.20311E-5 41559 0 8.239E-6
5-55398350-T-C p.Asn565Ser missense ANKRD55 3 83126 3.60898E-5 41563 0 3.97864E-6
5-55398353-C-G p.Arg564Pro missense ANKRD55 6 83114 7.219E-5 41557 0 8.23913E-6
5-55398354-G-A p.Arg564Trp missense ANKRD55 3 83130 3.60881E-5 41565 0 5.04032E-4
5-55398357-T-C p.Thr563Ala missense ANKRD55 1 83128 1.20296E-5 41564 0 7.95729E-6
5-55398360-A-G p.Phe562Leu missense ANKRD55 1 83146 1.2027E-5 41573 0 3.1841E-5
5-55398369-C-T p.Asp559Asn missense ANKRD55 2 83126 2.40599E-5 41563 0 6.37146E-5
5-55398398-T-A p.His549Leu missense ANKRD55 3 83042 3.61263E-5 41521 0 1.64883E-5
5-55406940-A-G c.1630+5T>C splice_region ANKRD55 4 83098 4.81359E-5 41549 0 4.02855E-6
5-55406952-T-C p.Pro541Pro synonymous ANKRD55 19363 82120 0.235789 41060 2333 0.359375
5-55406961-T-C p.Leu538Leu synonymous ANKRD55 3 83228 3.60456E-5 41614 0 6.6579E-5
5-55406966-G-A p.His537Tyr missense ANKRD55 34 83226 4.08526E-4 41613 0 5.03525E-4
5-55406968-C-T p.Arg536His missense ANKRD55 3 83234 3.6043E-5 41617 0 6.25E-4
5-55406975-G-C p.His534Asp missense ANKRD55 1 83236 1.2014E-5 41618 0 NA
5-55406985-G-A p.Ser530Ser synonymous ANKRD55 10 83212 1.20175E-4 41606 0 5.03525E-4
5-55406990-C-A p.Val529Phe missense ANKRD55 17 83218 2.04283E-4 41609 0 2.86533E-4
5-55406991-C-G p.Glu528Asp missense ANKRD55 1 83222 1.20161E-5 41611 0 NA
5-55407007-C-T p.Arg523Gln missense ANKRD55 3 83180 3.60664E-5 41590 0 8.23886E-5
5-55407013-C-T p.Ser521Asn missense ANKRD55 4 83182 4.80873E-5 41591 0 1.64756E-5
5-55407026-C-A p.Asp517Tyr missense ANKRD55 1 83160 1.2025E-5 41580 0 NA
5-55407039-A-G p.Ser512Ser synonymous ANKRD55 19 83148 2.28508E-4 41574 0 1.9101E-4
5-55407042-A-G p.Ser511Ser synonymous ANKRD55 1 83138 1.20282E-5 41569 0 3.97896E-6
5-55407062-T-C p.Lys505Glu missense ANKRD55 3 83092 3.61046E-5 41546 0 8.23927E-6
5-55407070-A-G p.Phe502Ser missense ANKRD55 1 83054 1.20404E-5 41527 0 NA
5-55407074-CCTGATTAGAATCACT-C p.Ser496_Gln500del conservative_inframe_deletion ANKRD55 8 83048 9.63298E-5 41524 0 6.36943E-5
5-55407075-C-T p.Gln500Gln synonymous ANKRD55 2 83040 2.40848E-5 41520 0 4.12079E-5
5-55407077-G-T p.Gln500Lys missense ANKRD55 1 83030 1.20438E-5 41515 0 3.18431E-5
5-55407078-A-T p.Asn499Lys missense ANKRD55 1 83024 1.20447E-5 41512 0 3.18451E-5
5-55407093-CCAGGGGTT-C p.Asn492fs frameshift ANKRD55 4 82904 4.82486E-5 41452 0 NA
5-55407099-G-A p.Asn492Asn synonymous ANKRD55 4 82858 4.82754E-5 41429 0 NA
5-55407099-G-C p.Asn492Lys missense ANKRD55 1 82858 1.20688E-5 41429 0 NA
5-55407116-G-A p.Gln487* stop_gained ANKRD55 1 82748 1.20849E-5 41374 0 3.18532E-5
5-55407143-C-A p.Asp478Tyr missense ANKRD55 2 82554 2.42266E-5 41277 0 3.18552E-5
5-55407157-C-A p.Ser473Ile missense ANKRD55 1 82522 1.2118E-5 41261 0 NA
5-55407164-G-C p.Gln471Glu missense ANKRD55 4 82496 4.84872E-5 41248 0 3.18492E-5
5-55407176-C-T p.Ala467Thr missense ANKRD55 1 82464 1.21265E-5 41232 0 3.98648E-5
5-55407183-A-G p.His464His synonymous ANKRD55 1 82490 1.21227E-5 41245 0 1.64861E-5
5-55407189-A-C p.Ala462Ala synonymous ANKRD55 1 82474 1.2125E-5 41237 0 8.2428E-6
5-55407201-G-A p.Gly458Gly synonymous ANKRD55 3 82470 3.63769E-5 41235 0 2.47313E-5
5-55407205-G-A p.Ala457Val missense ANKRD55 1 82500 1.21212E-5 41250 0 8.24362E-6
5-55407208-T-C p.His456Arg missense ANKRD55 1 82514 1.21192E-5 41257 0 8.24334E-6
5-55407212-A-G p.Ser455Pro missense ANKRD55 1 82502 1.21209E-5 41251 0 NA
5-55407214-G-C p.Thr454Ser missense ANKRD55 1 82530 1.21168E-5 41265 0 3.98606E-6
5-55407217-G-T p.Ala453Asp missense ANKRD55 5 82550 6.05694E-5 41275 0 3.1841E-4
5-55407256-A-G p.Ile440Thr missense ANKRD55 1 82818 1.20747E-5 41409 0 NA
5-55407257-T-C p.Ile440Val missense ANKRD55 19 82848 2.29336E-4 41424 0 6.37024E-5
5-55407268-C-T p.Ser436Asn missense ANKRD55 47 82960 5.66538E-4 41480 0 0.003125
5-55407273-C-T p.Thr434Thr synonymous ANKRD55 4 82996 4.81951E-5 41498 0 2.38914E-5
5-55407273-C-A p.Thr434Thr synonymous ANKRD55 2 82998 2.4097E-5 41499 0 7.96381E-6
5-55407274-G-A p.Thr434Met missense ANKRD55 2 83024 2.40894E-5 41512 0 2.47166E-5
5-55407281-T-C p.Ile432Val missense ANKRD55 1 83086 1.20357E-5 41543 0 6.36983E-5
5-55407283-G-C p.Pro431Arg missense ANKRD55 1 83098 1.2034E-5 41549 0 8.23805E-6
5-55407290-G-GC p.Leu429fs frameshift ANKRD55 1 83134 1.20288E-5 41567 0 NA
5-55407298-C-T p.Arg426His missense ANKRD55 5 83164 6.01222E-5 41582 0 5.76625E-5
5-55407299-G-A p.Arg426Cys missense ANKRD55 3 83162 3.60742E-5 41581 0 9.06096E-5
5-55407306-C-T p.Pro423Pro synonymous ANKRD55 1 83186 1.20213E-5 41593 0 NA
5-55407307-G-A p.Pro423Leu missense ANKRD55 2 83192 2.40408E-5 41596 0 3.98045E-6
5-55407321-T-C p.Leu418Leu synonymous ANKRD55 1 83256 1.20111E-5 41628 0 NA
5-55407326-G-T p.Leu417Ile missense ANKRD55 1 83254 1.20114E-5 41627 0 NA
5-55407338-TG-T p.Asp412fs frameshift ANKRD55 1 83268 1.20094E-5 41634 0 1.19353E-5
5-55407365-C-T p.Val404Ile missense ANKRD55 3 83284 3.60213E-5 41642 0 3.18512E-5
5-55407370-G-A p.Ala402Val missense ANKRD55 2 83280 2.40154E-5 41640 0 3.98416E-6
5-55407389-G-A p.Gln396* stop_gained ANKRD55 6 83306 7.20236E-5 41653 0 1.60617E-5
5-55407410-C-T p.Val389Met missense ANKRD55 1 83306 1.20039E-5 41653 0 4.10179E-6
5-55407438-A-G p.Asn379Asn synonymous ANKRD55 5 83318 6.0011E-5 41659 0 4.40979E-5
5-55407447-T-C p.Ser376Ser synonymous ANKRD55 4 83316 4.801E-5 41658 0 4.62158E-6
5-55407449-A-G p.Ser376Pro missense ANKRD55 460 83312 0.00552141 41656 4 0.00624602
5-55407452-T-C p.Thr375Ala missense ANKRD55 1 83326 1.20011E-5 41663 0 4.79267E-6
5-55407459-C-T p.Glu372Glu synonymous ANKRD55 1 83322 1.20016E-5 41661 0 9.93424E-6
5-55407461-C-G p.Glu372Gln missense ANKRD55 1 83314 1.20028E-5 41657 0 NA
5-55407469-C-T p.Arg369Gln missense ANKRD55 3 83310 3.60101E-5 41655 0 8.99685E-6
5-55407470-G-A p.Arg369* stop_gained ANKRD55 3 83304 3.60127E-5 41652 0 9.00317E-6
5-55407473-C-T p.Asp368Asn missense ANKRD55 2 83316 2.4005E-5 41658 0 NA
5-55407475-C-T p.Arg367Lys missense ANKRD55 1 83312 1.20031E-5 41656 0 NA
5-55407478-C-T p.Ser366Asn missense ANKRD55 1 83302 1.20045E-5 41651 0 NA
5-55407485-C-G p.Asp364His missense ANKRD55 1 83298 1.20051E-5 41649 0 NA
5-55407496-G-C p.Ala360Gly missense ANKRD55 1 83310 1.20034E-5 41655 0 3.18552E-5
5-55407497-C-T p.Ala360Thr missense ANKRD55 1 83308 1.20036E-5 41654 0 4.51451E-5
5-55407498-T-C p.Arg359Arg synonymous ANKRD55 1 83308 1.20036E-5 41654 0 NA
5-55407509-C-G p.Glu356Gln missense ANKRD55 1 83306 1.20039E-5 41653 0 NA
5-55407523-C-A p.Cys351Phe missense ANKRD55 109 83266 0.00130906 41633 0 0.0034751
5-55407523-C-T p.Cys351Tyr missense ANKRD55 14 83266 1.68136E-4 41633 0 0.00187617
5-55407534-G-A p.Asn347Asn synonymous ANKRD55 2 83250 2.4024E-5 41625 0 9.03702E-6
5-55407542-C-T p.Val345Met missense ANKRD55 19147 82290 0.232677 41145 2309 0.356875
5-55407550-C-T p.Arg342Gln missense ANKRD55 6 83160 7.21501E-5 41580 0 6.36862E-5
5-55407551-G-A p.Arg342Trp missense ANKRD55 126 83154 0.00151526 41577 0 0.0041733
5-55407554-T-C p.Arg341Gly missense ANKRD55 1 83140 1.20279E-5 41570 0 NA
5-55407572-G-A p.Arg335Trp missense ANKRD55 18 82992 2.16888E-4 41496 0 1.43475E-4
5-55407596-G-A p.Arg327* stop_gained ANKRD55 1 82628 1.21024E-5 41314 0 9.04846E-6
5-55407603-C-T p.Glu324Glu synonymous ANKRD55 2 82406 2.42701E-5 41203 0 NA
5-55407615-C-T c.966-6G>A splice_region ANKRD55 3 81346 3.68795E-5 40673 0 5.46402E-5
5-55407616-G-A c.966-7C>T splice_region ANKRD55 7 80930 8.64945E-5 40465 0 9.5584E-5
5-55412453-G-C p.Ser318Ser synonymous ANKRD55 21 82436 2.54743E-4 41218 0 2.49117E-4
5-55412458-G-A p.Leu317Phe missense ANKRD55 6 82622 7.26199E-5 41311 0 1.61397E-4
5-55412465-G-A p.Val314Val synonymous ANKRD55 1 82812 1.20755E-5 41406 0 NA
5-55412471-C-T p.Ala312Ala synonymous ANKRD55 5625 82720 0.0680005 41360 278 0.0958628
5-55412474-C-T p.Thr311Thr synonymous ANKRD55 2 82848 2.41406E-5 41424 0 1.27413E-4
5-55412475-G-A p.Thr311Met missense ANKRD55 1 82846 1.20706E-5 41423 0 9.5511E-5
5-55412476-T-C p.Thr311Ala missense ANKRD55 13 82860 1.56891E-4 41430 0 2.16544E-4
5-55412481-C-T p.Gly309Asp missense ANKRD55 10 82972 1.20523E-4 41486 0 9.9633E-5
5-55412482-C-T p.Gly309Ser missense ANKRD55 3 82968 3.61585E-5 41484 0 6.36902E-5
5-55412483-G-A p.Cys308Cys synonymous ANKRD55 2 82950 2.41109E-5 41475 0 3.18471E-5
5-55412483-G-C p.Cys308Trp missense ANKRD55 1 82950 1.20555E-5 41475 0 4.09494E-6
5-55412486-G-C p.Tyr307* stop_gained ANKRD55 1 83080 1.20366E-5 41540 0 2.4853E-5
5-55412496-T-G p.Tyr304Ser missense ANKRD55 2 83082 2.40726E-5 41541 0 NA
5-55412497-A-C p.Tyr304Asp missense ANKRD55 2 83074 2.40749E-5 41537 0 NA
5-55412500-C-T p.Ala303Thr missense ANKRD55 1 83086 1.20357E-5 41543 0 2.47864E-5
5-55412507-C-T p.Thr300Thr synonymous ANKRD55 1 83018 1.20456E-5 41509 0 8.25777E-6
5-55412508-G-A p.Thr300Met missense ANKRD55 2 83028 2.40883E-5 41514 0 1.65147E-5
5-55412513-C-A p.Glu298Asp missense ANKRD55 1 83004 1.20476E-5 41502 0 NA
5-55412515-C-T p.Glu298Lys missense ANKRD55 1 82998 1.20485E-5 41499 0 3.98568E-6
5-55412517-TTGATGTCCCGCAGGTTGCTGTCCATTCCCAACTCCAGCAGTGACTGGACACATTCGGCCTTCCCTGCAGC-T p.Ala274fs frameshift ANKRD55 1 82974 1.2052E-5 41487 0 NA
5-55412526-C-T p.Arg294Gln missense ANKRD55 3 82904 3.61864E-5 41452 0 3.30251E-5
5-55412527-G-C p.Arg294Gly missense ANKRD55 1 82898 1.2063E-5 41449 0 1.6515E-5
5-55412527-G-A p.Arg294Trp missense ANKRD55 2 82898 2.4126E-5 41449 0 4.38652E-5
5-55412536-T-C p.Ser291Gly missense ANKRD55 4 82844 4.82835E-5 41422 0 2.22986E-4
5-55412541-A-G p.Met1? start_lost ANKRD55 1 82862 1.20683E-5 41431 0 8.26132E-6
5-55412546-C-T p.Leu287Leu synonymous ANKRD55 1 82848 1.20703E-5 41424 0 7.9748E-6
5-55412548-A-C p.Leu287Val missense ANKRD55 1 82826 1.20735E-5 41413 0 7.97556E-6
5-55412551-C-T p.Glu286Lys missense ANKRD55 1 82838 1.20718E-5 41419 0 NA
5-55412552-C-T p.Leu285Leu synonymous ANKRD55 2 82822 2.41482E-5 41411 0 NA
5-55412569-A-AT p.Cys280fs frameshift ANKRD55 1 82770 1.20817E-5 41385 0 3.99482E-6
5-55412572-C-T p.Glu279Lys missense ANKRD55 806 82690 0.00974725 41345 13 0.00837014
5-55412584-C-A p.Ala275Ser missense ANKRD55 1 82604 1.2106E-5 41302 0 8.93815E-6
5-55412606-T-G p.Thr267Thr synonymous ANKRD55 1 82244 1.21589E-5 41122 0 NA
5-55412637-A-G c.-95T>C 5_prime_UTR_premature_start_codon_gain ANKRD55 3 80756 3.71489E-5 40378 0 3.1837E-5
5-55412640-G-A c.-98C>T 5_prime_UTR_premature_start_codon_gain ANKRD55 18 80342 2.24042E-4 40171 0 4.45718E-4
5-55412751-T-C c.-209A>G 5_prime_UTR_premature_start_codon_gain ANKRD55 2 56166 3.56087E-5 28083 0 NA
5-55412762-G-A c.-220C>T 5_prime_UTR_premature_start_codon_gain ANKRD55 53 47720 0.00111065 23860 0 0.00187826
5-55422741-A-G c.797+8T>C splice_region ANKRD55 1 82974 1.2052E-5 41487 0 8.31919E-6
5-55422744-G-T c.797+5C>A splice_region ANKRD55 1 82998 1.20485E-5 41499 0 NA
5-55422745-A-G c.797+4T>C splice_region ANKRD55 3 83004 3.61428E-5 41502 0 1.24489E-5
5-55422748-C-A c.797+1G>T splice_donor ANKRD55 2 83044 2.40836E-5 41522 0 8.48824E-6
5-55422749-C-A p.Arg266Met missense+splice_region ANKRD55 1 83040 1.20424E-5 41520 0 NA
5-55422757-C-T p.Val263Val synonymous ANKRD55 1 83138 1.20282E-5 41569 0 4.06197E-6
5-55422768-C-T p.Ala260Thr missense ANKRD55 1 83208 1.20181E-5 41604 0 NA
5-55422784-A-G p.Pro254Pro synonymous ANKRD55 2 83234 2.40286E-5 41617 0 NA
5-55422787-G-A p.Val253Val synonymous ANKRD55 1 83212 1.20175E-5 41606 0 1.1952E-5
5-55422804-G-A p.His248Tyr missense ANKRD55 1 83222 1.20161E-5 41611 0 3.98711E-6
5-55422806-A-G p.Ile247Thr missense ANKRD55 1 83212 1.20175E-5 41606 0 3.18471E-5
5-55422813-C-T p.Asp245Asn missense ANKRD55 1 83204 1.20187E-5 41602 0 8.24253E-6
5-55422814-G-A p.Ser244Ser synonymous ANKRD55 2 83218 2.40333E-5 41609 0 3.18593E-5
5-55422821-C-G p.Gly242Ala missense ANKRD55 2 83228 2.40304E-5 41614 0 3.18573E-5
5-55422823-C-T p.Ala241Ala synonymous ANKRD55 815 83224 0.00979285 41612 25 0.0227186
5-55422824-G-A p.Ala241Val missense ANKRD55 4 83234 4.80573E-5 41617 0 9.55962E-5
5-55422829-C-T p.Ala239Ala synonymous ANKRD55 6 83248 7.20738E-5 41624 0 6.37267E-5
5-55422830-G-T p.Ala239Glu missense ANKRD55 2 83238 2.40275E-5 41619 0 3.18735E-5
5-55422830-G-A p.Ala239Val missense ANKRD55 1 83238 1.20137E-5 41619 0 1.99119E-5
5-55422834-C-T p.Ala238Thr missense ANKRD55 3 83252 3.60352E-5 41626 0 5.03525E-4
5-55422835-G-A p.Ile237Ile synonymous ANKRD55 1 83246 1.20126E-5 41623 0 3.18573E-5
5-55422840-G-A p.His236Tyr missense ANKRD55 1 83254 1.20114E-5 41627 0 NA
5-55422841-T-C p.Val235Val synonymous ANKRD55 24 83250 2.88288E-4 41625 0 0.001206
5-55422860-T-C p.Glu229Gly missense ANKRD55 1 83284 1.20071E-5 41642 0 NA
5-55422864-C-T p.Asp228Asn missense ANKRD55 2 83292 2.40119E-5 41646 0 3.98042E-6
5-55422877-T-C p.Ile223Met missense ANKRD55 186 83298 0.00223295 41649 0 0.00436389
5-55422878-A-T p.Ile223Lys missense ANKRD55 1 83304 1.20042E-5 41652 0 3.982E-6
5-55422879-T-A p.Ile223Leu missense ANKRD55 1 83302 1.20045E-5 41651 0 6.25E-4
5-55422883-C-T p.Pro221Pro synonymous ANKRD55 2 83312 2.40061E-5 41656 0 4.12317E-5
5-55422887-C-G p.Gly220Ala missense ANKRD55 3 83314 3.60084E-5 41657 0 8.24892E-6
5-55422888-C-T p.Gly220Arg missense ANKRD55 3 83308 3.60109E-5 41654 0 3.98581E-6
5-55422899-C-T p.Ser216Asn missense ANKRD55 1 83324 1.20013E-5 41662 0 NA
5-55422901-C-T p.Leu215Leu synonymous ANKRD55 2 83324 2.40027E-5 41662 0 3.18634E-5
5-55422909-T-C p.Ile213Val missense ANKRD55 1 83332 1.20002E-5 41666 0 NA
5-55422918-G-C p.Leu210Val missense ANKRD55 1 83302 1.20045E-5 41651 0 3.18654E-5
5-55422923-C-T p.Arg208Lys missense ANKRD55 5 83280 6.00384E-5 41640 0 1.91192E-4
5-55422934-C-G c.613-1G>C splice_acceptor ANKRD55 1 83142 1.20276E-5 41571 0 NA
5-55422937-G-A c.613-4C>T splice_region ANKRD55 10 83104 1.20331E-4 41552 0 6.3804E-5
5-55439628-C-G p.Gln204His missense+splice_region ANKRD55 7 83314 8.40195E-5 41657 0 1.40061E-4
5-55439640-G-A p.His200His synonymous ANKRD55 6 83320 7.20115E-5 41660 0 3.9769E-5
5-55439647-G-T p.Ala198Asp missense ANKRD55 1 83322 1.20016E-5 41661 0 8.23683E-6
5-55439649-G-A p.Thr197Thr synonymous ANKRD55 3 83312 3.60092E-5 41656 0 2.47101E-5
5-55439655-A-G p.Phe195Phe synonymous ANKRD55 1 83316 1.20025E-5 41658 0 NA
5-55439672-G-A p.Leu190Phe missense ANKRD55 1 83316 1.20025E-5 41658 0 1.64728E-5
5-55439679-G-A p.Asp187Asp synonymous ANKRD55 1 83316 1.20025E-5 41658 0 8.74995E-5
5-55439683-G-A p.Ala186Val missense ANKRD55 1 83298 1.20051E-5 41649 0 NA
5-55439700-C-T p.Met180Ile missense ANKRD55 1 83300 1.20048E-5 41650 0 8.23655E-6
5-55439704-T-G p.Gln179Pro missense ANKRD55 1 83300 1.20048E-5 41650 0 NA
5-55439706-T-C p.Thr178Thr synonymous ANKRD55 2 83308 2.40073E-5 41654 0 8.23655E-6
5-55439717-G-T p.Pro175Thr missense ANKRD55 4 83272 4.80354E-5 41636 0 3.18492E-5
5-55439718-C-A p.Gln174His missense ANKRD55 3 83270 3.60274E-5 41635 0 3.18431E-5
5-55439722-T-C p.Asn173Ser missense ANKRD55 1 83258 1.20109E-5 41629 0 5.03525E-4
5-55439731-G-A p.Ala170Val missense ANKRD55 1 83232 1.20146E-5 41616 0 3.97785E-6
5-55439734-G-A p.Ala169Val missense ANKRD55 3 83236 3.60421E-5 41618 0 1.07086E-4
5-55439734-GC-G p.Ala169fs frameshift ANKRD55 1 83236 1.2014E-5 41618 0 2.47121E-5
5-55439749-G-A p.Thr164Ile missense ANKRD55 1 83112 1.2032E-5 41556 0 3.97886E-6
5-55439757-C-CTCATTGTCCTGGTGATTAATCTCGCTGATGTTCGACTGT c.484-2_484-1insACAGTCGAACATCAGCGAGATTAATCACCAGGACAATGA splice_acceptor ANKRD55 1 83042 1.20421E-5 41521 0 NA
5-55455683-C-T p.Glu154Lys missense ANKRD55 2 83194 2.40402E-5 41597 0 3.97662E-6
5-55455683-C-G p.Glu154Gln missense ANKRD55 1 83194 1.20201E-5 41597 0 3.97662E-6
5-55455711-C-T p.Thr144Thr synonymous ANKRD55 11 83124 1.32332E-4 41562 0 0.00101112
5-55455717-G-A p.Leu142Leu synonymous ANKRD55 1 83110 1.20322E-5 41555 0 NA
5-55455723-G-GAC c.423-4_423-3insGT splice_region ANKRD55 2 83048 2.40825E-5 41524 0 NA
5-55455723-G-GACTTGGATCTCCTGCTCAGTTGACTGAAGTCAACGCTCCATC c.423-4_423-3insGATGGAGCGTTGACTTCAGTCAACTGAGCAGGAGATCCAAGT splice_region ANKRD55 1 83048 1.20412E-5 41524 0 NA
5-55466528-C-T p.Asp139Asn missense ANKRD55 2 83078 2.40738E-5 41539 0 3.29957E-5
5-55466529-G-A p.Pro138Pro synonymous ANKRD55 2 83070 2.40761E-5 41535 0 0.0010101
5-55466547-A-G p.His132His synonymous ANKRD55 1 83158 1.20253E-5 41579 0 NA
5-55466548-T-C p.His132Arg missense ANKRD55 1 83158 1.20253E-5 41579 0 8.24593E-6
5-55466551-A-G p.Leu131Pro missense ANKRD55 1 83176 1.20227E-5 41588 0 3.97753E-6
5-55466560-C-T p.Arg128His missense ANKRD55 4 83044 4.81672E-5 41522 0 1.46399E-4
5-55466560-C-A p.Arg128Leu missense ANKRD55 2 83044 2.40836E-5 41522 0 NA
5-55466566-T-C p.Asn126Ser missense ANKRD55 7 83172 8.41629E-5 41586 0 6.37918E-5
5-55466594-C-T p.Gly117Ser missense ANKRD55 1 83244 1.20129E-5 41622 0 3.9775E-6
5-55466595-G-A p.Asn116Asn synonymous ANKRD55 1 83252 1.20117E-5 41626 0 8.25042E-6
5-55466608-C-T p.Ser112Asn missense ANKRD55 61 83262 7.32627E-4 41631 0 0.00127543
5-55466615-A-G p.Cys110Arg missense ANKRD55 1 83270 1.20091E-5 41635 0 NA
5-55466625-C-G p.Trp106Cys missense ANKRD55 1 83228 1.20152E-5 41614 0 NA
5-55466636-A-G c.313-6T>C splice_region ANKRD55 9 83196 1.08178E-4 41598 0 1.32207E-4
5-55471975-G-A c.312+4C>T splice_region ANKRD55 1 83230 1.20149E-5 41615 0 3.97915E-6
5-55471984-A-T p.Tyr103Asn missense ANKRD55 97 83234 0.00116539 41617 1 0.005625
5-55472001-C-T p.Ser97Asn missense ANKRD55 2 83282 2.40148E-5 41641 0 3.18512E-5
5-55472007-C-T p.Arg95His missense ANKRD55 4 83278 4.80319E-5 41639 0 1.91144E-4
5-55472008-G-T p.Arg95Ser missense ANKRD55 1 83272 1.20088E-5 41636 0 3.18695E-5
5-55472008-G-A p.Arg95Cys missense ANKRD55 1 83272 1.20088E-5 41636 0 NA
5-55472015-A-G p.Ala92Ala synonymous ANKRD55 2 83278 2.40159E-5 41639 0 NA
5-55472026-T-C p.Met89Val missense ANKRD55 1 83286 1.20068E-5 41643 0 1.19301E-5
5-55472027-G-A p.Asn88Asn synonymous ANKRD55 7 83286 8.40477E-5 41643 0 1.27364E-4
5-55472031-A-G p.Ile87Thr missense ANKRD55 1 83290 1.20062E-5 41645 0 3.29489E-5
5-55472034-T-C p.Asn86Ser missense ANKRD55 4 83278 4.80319E-5 41639 0 3.29495E-5
5-55472039-T-C p.Gly84Gly synonymous ANKRD55 1 83264 1.201E-5 41632 0 NA
5-55472053-G-A p.Leu80Leu synonymous ANKRD55 1 83228 1.20152E-5 41614 0 2.47129E-5
5-55472055-A-G p.Leu79Pro missense ANKRD55 8 83232 9.61169E-5 41616 0 5.76635E-5
5-55472061-A-G p.Val77Ala missense ANKRD55 1 83216 1.20169E-5 41608 0 3.97738E-6
5-55472067-T-A p.Asp75Val missense ANKRD55 1 83214 1.20172E-5 41607 0 NA
5-55472069-C-T p.Ala74Ala synonymous ANKRD55 1 83210 1.20178E-5 41605 0 3.97788E-6
5-55472070-G-A p.Ala74Val missense ANKRD55 2 83194 2.40402E-5 41597 0 3.29511E-5
5-55472071-C-G p.Ala74Pro missense ANKRD55 1 83204 1.20187E-5 41602 0 NA
5-55472072-T-C p.Gln73Gln synonymous ANKRD55 2 83206 2.40367E-5 41603 0 NA
5-55472076-C-T p.Arg72His missense ANKRD55 2 83172 2.40466E-5 41586 0 1.27405E-4
5-55472077-G-A p.Arg72Cys missense ANKRD55 73 83162 8.77805E-4 41581 0 5.03525E-4
5-55472087-C-T p.Ala68Ala synonymous ANKRD55 12 83148 1.44321E-4 41574 0 1.27364E-4
5-55472088-G-A p.Ala68Val missense ANKRD55 3 83124 3.60907E-5 41562 0 6.36821E-5
5-55472090-A-G p.His67His synonymous ANKRD55 55 83132 6.61598E-4 41566 0 0.00855992
5-55472103-G-A p.Thr63Met missense ANKRD55 3 83012 3.61394E-5 41506 0 3.9808E-6
5-55472117-G-C c.182-8C>G splice_region ANKRD55 1 82798 1.20776E-5 41399 0 8.24647E-6
5-55479333-T-A c.181+6A>T splice_region ANKRD55 1 82916 1.20604E-5 41458 0 NA
5-55479334-C-T c.181+5G>A splice_region ANKRD55 1 82936 1.20575E-5 41468 0 8.25328E-6
5-55479342-C-G p.Glu60Gln missense ANKRD55 2 83030 2.40877E-5 41515 0 NA
5-55479354-A-T p.Cys56Ser missense ANKRD55 1 83074 1.20375E-5 41537 0 3.1839E-5
5-55479360-G-T p.Leu54Ile missense ANKRD55 1 83102 1.20334E-5 41551 0 1.64802E-5
5-55479361-G-A p.Ile53Ile synonymous ANKRD55 41 83102 4.9337E-4 41551 0 0.00100705
5-55479363-T-G p.Ile53Leu missense ANKRD55 8 83124 9.62418E-5 41562 0 1.59226E-4
5-55479378-G-A p.Arg48Trp missense ANKRD55 2 83188 2.40419E-5 41594 0 8.23873E-6
5-55479395-G-T p.Ala42Asp missense ANKRD55 1 83212 1.20175E-5 41606 0 3.97788E-6
5-55479405-C-G p.Asp39His missense ANKRD55 27 83240 3.24363E-4 41620 0 8.3143E-4
5-55479409-A-G p.Asn37Asn synonymous ANKRD55 1 83244 1.20129E-5 41622 0 3.97798E-6
5-55479428-A-ATGTATAT p.Val31fs frameshift ANKRD55 1 83236 1.2014E-5 41618 0 NA
5-55479439-G-A p.Asp27Asp synonymous ANKRD55 1 83224 1.20158E-5 41612 0 NA
5-55479443-A-G p.Val26Ala missense ANKRD55 1 83212 1.20175E-5 41606 0 6.36862E-5
5-55528681-A-T c.58+2T>A splice_donor ANKRD55 1 83092 1.20349E-5 41546 0 NA
5-55528685-C-A p.Arg19Ile missense+splice_region ANKRD55 2 83122 2.4061E-5 41561 0 3.97731E-6
5-55528703-G-A p.Ser13Phe missense ANKRD55 1 83156 1.20256E-5 41578 0 3.97674E-6
5-55528721-A-G p.Met7Thr missense ANKRD55 1 83128 1.20296E-5 41564 0 NA
5-55528728-C-G p.Ala5Pro missense ANKRD55 1 83102 1.20334E-5 41551 0 NA
5-55528738-C-A p.Met1? start_lost ANKRD55 2 83060 2.4079E-5 41530 0 1.65235E-5
5-55528772-C-G c.-32G>C splice_region ANKRD55 2 82662 2.41949E-5 41331 0 6.25E-4